The objective of this project is the early detection of second cancers in patients with hereditary retinoblastoma.
Patients affected by hereditary retinoblastoma may suffer second cancers during their lifetime. This fact causes concern and discomfort among patients and their families, due to the uncertainty of a medium-term future.
There are several studies that determine the most frequent second neoplasms and at what age they usually appear, but there is currently no technique that allows early detection of these second neoplasms. There are only recommendations to be followed and basic check-ups for all patients.
With this research, it will be possible to personalize patient follow-up in the medium to long term, using genetic techniques.
Specifically, a liquid biopsy test based on a blood test will be designed, allowing early detection of second tumors. A sample of survivors will be taken to provide clinical and epidemiological data on the real cumulative risk of second malignancies in the long term. Once the possible second malignancies have been characterized by genomic analysis, an appropriate tool will be designed considering the whole spectrum of tumors.
The project is promoted by the Fundació La Nineta dels Ulls and led by Eduard Serra and Bernat Gel, researchers from the Hereditary Cancer Research Group of the Germans Trias y Pujol Research Institute. Clinical researchers with experience in the clinical management of retinoblastoma patients in different hospitals in Spain and Latin America also participate.